Abstract
Diamond–Blackfan anemia (DBA) is a rare congenital hypoplastic anemia characterized by a block in erythropoiesis at the progenitor stage, although the exact stage at which this occurs remains to be fully defined. DBA presents primarily during infancy with macrocytic anemia and reticulocytopenia with 50% of cases associated with a variety of congenital malformations. DBA is most frequently due to a sporadic mutation (55%) in genes encoding several different ribosomal proteins, although there are many cases where there is a family history of the disease with varying phenotypes. The erythroid tropism of the disease is still a matter of debate for a disease related to a defect in global ribosome biogenesis. Assessment of biological features in conjunction with genetic testing has increased the accuracy of the diagnosis of DBA. However, in certain cases, it continues to be difficult to firmly establish a diagnosis. This review will focus on the diagnosis of DBA along with a description of new advances in our understanding of the pathophysiology and treatment recommendations for DBA.
Highlights
Diamond–Blackfan anemia (DBA) was described for the first time in the 1930’s as a constitutional hypoplastic anemia[1,2]
There was a gap of almost 60 years after the first description of the disease[2,3] before the first gene was identified in DBA, namely ribosomal protein (RP) S19 (RPS19) in 19994
The mutant RP is responsible for a defect in rRNA maturation, which is the signature feature for most DBA cases
Summary
Diamond–Blackfan anemia (DBA) was described for the first time in the 1930’s as a constitutional hypoplastic anemia[1,2]. Mutations in the RPL15 gene have been identified in cases of hydrops fetalis in DBA patients[7], and RPL35a gene mutations are associated with neutropenia. Biological features DBA is one of the inherited bone marrow failure (IBMF) syndromes that include Fanconi anemia, Shwachman–Bodian– Diamond syndrome, dyskeratosis congenita, and cartilage hair hypoplasia[18,19,20,21,22,23,24] All of these syndromes have a quantitative defect in hematopoiesis. Mutations including deletions in six of 20 identified genes, namely RPS19, RPL5, RPS26, RPL11, RPL35a, and RPS24, account for 70% of all DBA cases (Figure 1). Large deletions have been reported in 20% of patients, which makes large deletions the second most frequent genetic defect after RPS19 gene mutation (25%) in DBA.
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